Details of Disease

General Information of Disease (ID: DIS53JH9)

Disease Name	Neurofibromatosis type 1
Synonyms	neurofibromatosis, type I; neurofibromatosis type 1 microdeletion syndrome; von Reklinghausen disease; Recklinghausen's disease; Von Recklinghausen disease; neurofibromatosis, peripheral type; type 1 neurofibromatosis; neurofibromatosis; NF1; neurofibromatosis 1; neurofibromatosis, type 1; Neurofibromatosis 1; neurofibromatosis type i; neurofibromatosis type 1; peripheral neurofibromatosis; Nf1-Microdeletion syndrome
Disease Class	LD2D: Phakomatoses/hamartoneoplastic syndrome
Definition	A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Disease Hierarchy	DIS5N2R6: Neurofibromatosis DIS2IQBH: Neurocristopathy DISPAV44: RASopathy DIS7GG31: Developmental defect during embryogenesis DIS53JH9: Neurofibromatosis type 1
ICD Code	ICD-11 ICD-11: LD2D.10 ICD-10 ICD-10: Q85.0 Expand ICD-11 'LD2D.10 Expand ICD-10 'Q85.0
Disease Identifiers	MONDO ID MONDO_0018975 MESH ID D009456 UMLS CUI C0027831 OMIM ID 162200 MedGen ID 18013 Orphanet ID 636 SNOMED CT ID 92824003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Pexidartinib	DMS2J0Z	Approved	NA	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Selumetinib	DMC7W6R	Phase 3	Small molecular drug	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 25 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ASIC2	TTVMWLP	moderate	Genetic Variation	[3]
CNTN2	TT2Z1WB	moderate	Genetic Variation	[4]
METAP2	TTZL0OI	moderate	Biomarker	[5]
MYH2	TTBIL13	moderate	Biomarker	[6]
PGD	TTZ3IFB	moderate	Genetic Variation	[7]
RPS6KA1	TTIXKA4	moderate	Biomarker	[8]
TBL1XR1	TTYXT16	moderate	Biomarker	[9]
VEGFB	TTPJQHE	moderate	Biomarker	[10]
DPYSL2	TTZCW3T	Strong	Biomarker	[11]
EED	TTFNJ4R	Strong	Biomarker	[12]
GFAP	TTI6FFX	Strong	Biomarker	[13]
MAP2K7	TT6QY3J	Strong	Biomarker	[14]
MDK	TTV8UE7	Strong	Altered Expression	[15]
MLH1	TTISG27	Strong	Genetic Variation	[16]
MRC1	TTKV8W5	Strong	Genetic Variation	[17]
NF2	TTZIK7P	Strong	Biomarker	[18]
PAK1	TTFN95D	Strong	Biomarker	[19]
PDGFRA	TT8FYO9	Strong	Altered Expression	[20]
PNMT	TT0NZIC	Strong	Altered Expression	[21]
RGS6	TTJ96M8	Strong	Biomarker	[22]
RNMT	TTG45HY	Strong	Biomarker	[23]
SDHD	TTVH9W8	Strong	Biomarker	[24]
THRA	TTTSEPU	Strong	Biomarker	[25]
TPT1	TT3PTB6	Strong	Biomarker	[26]
VCP	TTHNLSB	Strong	Biomarker	[27]
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⏷ Show the Full List of 25 DTT(s)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
VARS1	DEUPF5K	Limited	Biomarker	[26]
APRT	DE2MV1R	Strong	Genetic Variation	[28]
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This Disease Is Related to 66 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DIAPH2	OTBEYFEZ	Limited	Biomarker	[26]
HSD17B6	OTSB55D2	Limited	Altered Expression	[29]
MSH6	OT46FP09	Limited	Genetic Variation	[30]
SHROOM2	OTZ2FJ7Q	Limited	Biomarker	[31]
SKI	OT4KJ8F6	Limited	Genetic Variation	[31]
TCP1	OT1MGUX9	Limited	Altered Expression	[29]
ADAP2	OTGQ8UH7	moderate	Genetic Variation	[32]
ADCY8	OTR1WCZX	moderate	Biomarker	[33]
ALDH1L1	OT15HOJX	moderate	Biomarker	[34]
ATAD5	OTI8ABKF	moderate	Biomarker	[35]
CELF1	OT6JQ5RS	moderate	Biomarker	[36]
CITED2	OT812TV7	moderate	Genetic Variation	[37]
CNNM4	OTUXJRM1	moderate	Genetic Variation	[38]
CRABP2	OTY01V9G	moderate	Biomarker	[39]
CRTAC1	OT4PGEVE	moderate	Genetic Variation	[40]
ESCO1	OTZ9P12A	moderate	Biomarker	[41]
FHDC1	OTMMV8ZN	moderate	Biomarker	[42]
FOXG1	OTAW57J4	moderate	Biomarker	[43]
IMMT	OTBDSLE7	moderate	Biomarker	[44]
KIAA1549	OTA5B18F	moderate	Altered Expression	[45]
KIR2DL5A	OT09FZE1	moderate	Biomarker	[46]
KIR2DL5B	OTSV0JL9	moderate	Biomarker	[46]
LRRC37A	OT41U0KO	moderate	Biomarker	[47]
LRRC37A2	OT9UI93T	moderate	Biomarker	[47]
LRRC37A3	OT0ZXWFF	moderate	Biomarker	[47]
LSM2	OTHL77NY	moderate	Biomarker	[48]
MAF	OT1GR3IZ	moderate	Biomarker	[49]
MATN2	OTVDR68G	moderate	Biomarker	[50]
MEX3D	OTAUWRK7	moderate	Altered Expression	[51]
NFIA	OTDHQ9CG	moderate	Biomarker	[41]
NFIB	OTX94PD0	moderate	Biomarker	[41]
OLIG2	OTMCN6D3	moderate	Biomarker	[13]
PAX7	OTDMQRPO	moderate	Genetic Variation	[52]
PICALM	OTQVRPMQ	moderate	Biomarker	[53]
RASA2	OTL06RG2	moderate	Altered Expression	[54]
RHEB	OTFLTSEC	moderate	Biomarker	[55]
RNF135	OT18NH5N	moderate	Genetic Variation	[56]
RNF213	OT4OVE9O	moderate	Genetic Variation	[57]
RPTOR	OT4TQZ9F	moderate	Genetic Variation	[58]
SERPINF2	OTZGAF8B	moderate	Biomarker	[59]
SH3BP2	OT90JNBS	moderate	Genetic Variation	[60]
SNAP91	OTE3EXWZ	moderate	Biomarker	[53]
THSD7A	OT7249HH	moderate	Biomarker	[61]
TIA1	OTGPN3P8	moderate	Biomarker	[36]
TIAL1	OTV2KFZH	moderate	Biomarker	[36]
TLK2	OTZ09CG8	moderate	Biomarker	[62]
TNXB	OTVBWAV5	moderate	Altered Expression	[63]
APOBEC1	OTY8QX2R	Strong	Altered Expression	[64]
ATRX	OT77RSQW	Strong	Genetic Variation	[14]
BLVRB	OTHCFN2C	Strong	Genetic Variation	[65]
CCN5	OTADU8JJ	Strong	Biomarker	[66]
CRYBA1	OT8617WJ	Strong	Biomarker	[25]
DACH1	OTMKNAGG	Strong	Genetic Variation	[67]
EVI2A	OTR8RUXQ	Strong	Biomarker	[68]
LRRC37B	OTSHNSPP	Strong	Biomarker	[69]
MAGEB2	OTAGUVU5	Strong	Altered Expression	[70]
MFAP1	OTZN4FT3	Strong	Genetic Variation	[28]
NFIC	OTLMCUIB	Strong	Biomarker	[41]
NFIX	OT1DPZAE	Strong	Biomarker	[41]
NMS	OTFYS4LO	Strong	Biomarker	[71]
OMG	OTXA5C6L	Strong	Genetic Variation	[72]
PACC1	OTKBS8CC	Strong	Genetic Variation	[73]
SDHB	OTRE1M1T	Strong	Biomarker	[24]
SDHC	OTC8G2MX	Strong	Biomarker	[24]
SUZ12	OT655XF8	Strong	Genetic Variation	[74]
NF1	OTC29NHH	Definitive	Autosomal dominant	[75]
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⏷ Show the Full List of 66 DOT(s)

References

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33	The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.Cancer Res. 2015 Jan 1;75(1):16-21. doi: 10.1158/0008-5472.CAN-14-1891. Epub 2014 Nov 7.
34	Gene expression profiling of NF-1-associated and sporadic pilocytic astrocytoma identifies aldehyde dehydrogenase 1 family member L1 (ALDH1L1) as an underexpressed candidate biomarker in aggressive subtypes.J Neuropathol Exp Neurol. 2008 Dec;67(12):1194-204. doi: 10.1097/NEN.0b013e31818fbe1e.
35	Elg1, a central player in genome stability.Mutat Res Rev Mutat Res. 2015 Jan-Mar;763:267-79. doi: 10.1016/j.mrrev.2014.11.007. Epub 2014 Nov 24.
36	Alternative splicing of the neurofibromatosis type 1 pre-mRNA is regulated by the muscleblind-like proteins and the CUG-BP and ELAV-like factors.BMC Mol Biol. 2012 Dec 10;13:35. doi: 10.1186/1471-2199-13-35.
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39	The Cellular Retinoic Acid Binding Protein 2 Promotes Survival of Malignant Peripheral Nerve Sheath Tumor Cells.Am J Pathol. 2017 Jul;187(7):1623-1632. doi: 10.1016/j.ajpath.2017.02.021. Epub 2017 May 11.
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41	Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.PLoS One. 2017 Jun 23;12(6):e0178639. doi: 10.1371/journal.pone.0178639. eCollection 2017.
42	Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire.Health Qual Life Outcomes. 2017 Feb 14;15(1):34. doi: 10.1186/s12955-017-0607-y.
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